Publicaciones
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Garcia-Cazorla A, De Oyarzabal-Sanz AL, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, López-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch-Iriberri R, Palacín M and Rodríguez-Pombo P.
Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients
HUMAN MUTATION . 35(4): 470-477. Nº de citas: 59
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De Oyarzabal-Sanz AL, Martínez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M and Rodríguez-Pombo P.
A Novel Regulatory Defect in the Branched-Chain -Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease
HUMAN MUTATION . 34(2): 355-362. Nº de citas: 59